Relevant conflicts of interest/financial disclosures: Nothing to report.
Relative exchangeable copper: A promising tool for family screening in Wilson disease
Article first published online: 27 DEC 2013
© 2013 International Parkinson and Movement Disorder Society
Volume 29, Issue 4, pages 558–562, April 2014
How to Cite
Trocello, J.-M., El Balkhi, S., Woimant, F., Girardot-Tinant, N., Chappuis, P., Lloyd, C. and Poupon, J. (2014), Relative exchangeable copper: A promising tool for family screening in Wilson disease. Mov. Disord., 29: 558–562. doi: 10.1002/mds.25763
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 3 APR 2014
- Article first published online: 27 DEC 2013
- Manuscript Accepted: 28 OCT 2013
- Manuscript Revised: 17 SEP 2013
- Manuscript Received: 28 MAY 2013
- Wilson disease;
- relative exchangeable copper;
- family screening;
Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.
Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.
Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.
Exchangeable copper appears to be a promising tool for family screening in Wilson disease. © 2013 International Parkinson and Movement Disorder Society